Radiological Findings in Niemann-Pick Disease

Abstract

Radiographic review was obtained of 30 patients with Niemann-Pick disease. The radiologic features are hepatosplenomegaly, pulmonary infiltrations, osteoporosis with coxa valga, long-bone expansion with modeling defects, and metacarpal widening. Some definite group specificity is appreciated but changes appear related to longevity as well as to expression of the disease. Previously undescribed features are bone changes similar to those of Gaucher's disease, diffuse lung and liver calcifications, and a notch defect of the proximal humerus. The bone and lung changes are described in detail and differentiated from similar findings in other disease entities.